Variant report

Variant	nsv1029169
Chromosome Location	chr6:110389869-110413225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:110397087..110399467-chr6:110408778..110410725,2	K562	blood:
2	chr6:110400293..110402395-chr6:110404111..110406019,2	K562	blood:
3	chr6:110393980..110396773-chr6:110396779..110399595,3	K562	blood:
4	chr6:110393980..110396773-chr6:110396779..110399595,3	K562	blood:
5	chr6:110400293..110402395-chr6:110404111..110406019,2	K562	blood:
6	chr6:110397087..110399467-chr6:110408778..110410725,2	K562	blood:

Extended variants
information (count: 779 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9372247	chr6:110389869-110389870	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574848091	chr6:110389906-110389907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9372248	chr6:110389926-110389927	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559303850	chr6:110389972-110389973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543008375	chr6:110389994-110389995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190941307	chr6:110390035-110390036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201968693	chr6:110390054-110390055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530588055	chr6:110390077-110390078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550917062	chr6:110390078-110390079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567593892	chr6:110390092-110390093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536537021	chr6:110390093-110390094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546660458	chr6:110390106-110390107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183932807	chr6:110390206-110390207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138093949	chr6:110390270-110390271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558328676	chr6:110390276-110390277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578133540	chr6:110390280-110390281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537217292	chr6:110390290-110390291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572827183	chr6:110390352-110390353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149554308	chr6:110390384-110390385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1350944	chr6:110390405-110390406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs574026315	chr6:110390415-110390416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547739512	chr6:110390436-110390437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372052858	chr6:110390472-110390473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542913315	chr6:110390485-110390486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533085292	chr6:110390549-110390550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559326421	chr6:110390562-110390563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75639669	chr6:110390619-110390620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1350943	chr6:110390643-110390644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565206859	chr6:110390673-110390674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531013087	chr6:110390684-110390685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79315617	chr6:110390699-110390700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561055428	chr6:110390720-110390721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143249881	chr6:110390748-110390749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377321613	chr6:110390776-110390777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186060217	chr6:110390822-110390823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75521574	chr6:110390827-110390828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531977819	chr6:110391026-110391027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563993129	chr6:110391058-110391059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570030568	chr6:110391078-110391079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148306853	chr6:110391083-110391084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7747842	chr6:110391085-110391086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549092097	chr6:110391112-110391113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568884171	chr6:110391211-110391212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537529743	chr6:110391346-110391347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557170902	chr6:110391352-110391353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373646023	chr6:110391354-110391355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576137019	chr6:110391356-110391357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536560473	chr6:110391433-110391434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191000312	chr6:110391437-110391438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573213781	chr6:110391452-110391453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110383200-110391000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:110385200-110391200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:110387800-110391600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:110388400-110391400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr6:110388600-110390200	Enhancers	Fetal Heart	heart
6	chr6:110389000-110390000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:110389200-110391400	Enhancers	Brain Hippocampus Middle	brain
8	chr6:110389400-110390000	Enhancers	Brain Cingulate Gyrus	brain
9	chr6:110389400-110390200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:110389600-110390600	Weak transcription	Brain Substantia Nigra	brain
11	chr6:110389600-110390800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:110389600-110391200	Enhancers	Brain Anterior Caudate	brain
13	chr6:110389800-110390000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:110389800-110390000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:110389800-110390200	Enhancers	Lung	lung
16	chr6:110389800-110391200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:110390000-110390200	Enhancers	Right Atrium	heart
18	chr6:110390000-110391000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr6:110390000-110391000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:110390000-110391000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr6:110390000-110391200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:110390000-110391400	Enhancers	Brain Angular Gyrus	brain
23	chr6:110390000-110405200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:110390200-110390600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:110390200-110391000	Weak transcription	Fetal Heart	heart
26	chr6:110390600-110391000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:110390600-110391600	Enhancers	Brain Substantia Nigra	brain
28	chr6:110391000-110391200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:110391000-110391200	Enhancers	Fetal Heart	heart
30	chr6:110391000-110391400	Enhancers	Brain Cingulate Gyrus	brain
31	chr6:110391200-110391400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:110391200-110391800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:110391200-110398000	Weak transcription	Fetal Heart	heart
34	chr6:110396200-110396800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:110396200-110397000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:110396200-110397000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:110396200-110397200	Enhancers	HMEC	breast
38	chr6:110396400-110397000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:110396800-110397000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:110396800-110397200	Enhancers	NHEK	skin
41	chr6:110397000-110398200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:110397000-110412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:110397000-110415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:110397800-110398000	Enhancers	HSMMtube	muscle
45	chr6:110398000-110398400	Enhancers	Fetal Heart	heart
46	chr6:110398000-110398600	Enhancers	Right Ventricle	heart
47	chr6:110400800-110401200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:110401000-110401200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:110401200-110405200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:110401800-110402800	Enhancers	Primary B cells from peripheral blood	blood

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